ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.963G>A (p.Glu321=)

gnomAD frequency: 0.00007  dbSNP: rs773441060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001396687 SCV001598423 likely benign Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2022-06-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946039 SCV004762620 likely benign PDGFRB-related disorder 2019-10-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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